Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Víctor FaundesStephanie GohRhoda AkilapaHeidre BezuidenhoutHans T BjornssonLisa BradleyAngela F BradyElise Brischoux-BoucherHan BrunnerSaskia BulkNatalie CanhamDeclan CodyMaria Lisa DenticiMaria Cristina DigilioFrances ElmslieAndrew E FryHarinder GillJane HurstDiana JohnsonSophie JuliaKatherine LachlanRobert Roger LebelMelissa BylerEric GershonEdmond LemireMaria GnazzoFrancesca Romana LepriAntonia MarcheseMeriel McEntagartJulie McGaughranSeiji MizunoNobuhiko OkamotoClaudine RieublandJonathan RodgersErina SasakiEmmanuel ScalaisIngrid ScurrMohnish SuriIneke van der BurgtNaomichi MatsumotoNoriko MiyakeValérie BenoitDamien LedererSiddharth BankaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant type. We also highlight the overlaps and differences between the phenotypes of KS2 and KS1.